Q99607
PR
Gene name |
ELF4 |
Protein name |
ETS-related transcription factor Elf-4 |
Names |
E74-like factor 4, Myeloid Elf-1-like factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2000 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q99607
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99607-F1 | Predicted | AlphaFoldDB |
361 variants for Q99607
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087051 | 231 | W>R | AIFBL2; loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay; decreased IFNB1 promoter binding; impaired binding to GPR35, GPR162 and PLCB2 promoters [UniProt] | Yes | UniProt |
| VAR_087052 | 251 | W>S | AIFBL2; elevated IL17A expression in patient colon biopsies; patient CD8+ T cells have reduced PRF1 expression when activated with IL-2 compared to CD8+ T cells from a healthy donor; severely decreased transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | Yes | UniProt |
|
CA414584866 rs1413024926 |
3 | I>V | No |
ClinGen TOPMed |
|
|
rs774036747 CA10515193 |
9 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1569405037 CA414584588 |
12 | F>C | No |
ClinGen Ensembl |
|
|
rs375013154 CA10515192 |
13 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414584512 rs775432603 |
15 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs775432603 CA10515190 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166749869 CA414584416 |
18 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323425078 CA414584229 |
24 | H>Q | No |
ClinGen TOPMed |
|
|
CA414582103 rs1350358047 |
26 | L>R | No |
ClinGen gnomAD |
|
|
CA10515180 rs767020989 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10515178 rs749958591 |
40 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773927889 CA10515175 |
43 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1173863352 CA414581619 |
47 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470871205 CA414581553 |
50 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414581560 rs1319822062 |
50 | S>P | No |
ClinGen TOPMed |
|
|
CA414581446 rs1175642134 |
56 | D>N | No |
ClinGen gnomAD |
|
|
CA335110482 rs951241783 |
57 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs769738165 CA10515171 |
58 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA335110478 rs1025335469 |
59 | N>S | No |
ClinGen Ensembl |
|
|
rs1183853907 CA414581295 |
62 | I>V | No |
ClinGen TOPMed |
|
|
rs368563898 CA10515166 |
65 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368563898 CA10515167 |
65 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475125992 CA414581097 |
69 | M>L | No |
ClinGen TOPMed |
|
|
rs779024962 CA10515165 |
70 | T>M | No |
ClinGen ExAC |
|
|
rs1276273891 CA414580982 |
73 | Q>H | No |
ClinGen gnomAD |
|
|
CA414580864 rs1426429971 |
78 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 80 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414580594 rs1603200900 |
84 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146044419 CA414580575 |
85 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293396013 CA414580530 |
89 | S>A | No |
ClinGen gnomAD |
|
|
CA414580523 rs1464476842 |
89 | S>L | No |
ClinGen gnomAD |
|
|
rs1311825296 CA414580516 |
90 | H>R | No |
ClinGen TOPMed |
|
|
rs1431997985 CA414580494 |
92 | M>T | No |
ClinGen gnomAD |
|
|
CA10515151 rs147410657 VAR_087047 |
95 | A>T | Variant assessed as Somatic; 0.0 impact. no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [NCI-TCGA, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs776480793 CA10515150 |
95 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10515148 rs761827988 |
97 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA335110319 rs966086695 |
99 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414580333 rs1422111281 |
99 | L>R | No |
ClinGen gnomAD |
|
|
CA10515147 rs774503660 |
101 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1006557883 CA335110318 |
101 | M>V | No |
ClinGen gnomAD |
|
|
CA10515146 rs769011438 |
104 | P>S | No |
ClinGen ExAC |
|
|
rs749576502 CA10515145 |
105 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA414580205 rs1273079612 |
106 | D>Y | No |
ClinGen TOPMed |
|
|
rs746199501 CA10515142 |
107 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs757718731 CA10515140 |
109 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 110 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515139 rs751045589 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA414580032 rs1191197387 |
113 | I>L | No |
ClinGen TOPMed |
|
|
rs910807453 CA335109775 |
116 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs372637476 CA10515126 |
118 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775881757 CA10515125 |
120 | L>P | No |
ClinGen ExAC |
|
|
rs946877177 CA335109763 |
123 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414579375 rs1462284951 |
124 | D>E | No |
ClinGen gnomAD |
|
|
rs746225173 CA10515123 |
124 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781565329 CA10515122 |
126 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369991603 CA10515121 |
128 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1237038217 CA414579163 |
132 | P>L | No |
ClinGen gnomAD |
|
|
CA10515120 rs747620231 |
133 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10515119 COSM1114998 rs376485588 |
133 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 136 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334158716 CA414578865 |
140 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201900810 CA10515116 |
142 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414578772 rs1271390747 |
144 | L>P | No |
ClinGen TOPMed |
|
|
CA10515115 rs754590652 |
145 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227282068 CA414578732 |
146 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 146 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753587575 CA10515114 |
146 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA414578671 rs1349873723 |
147 | A>P | No |
ClinGen TOPMed |
|
|
VAR_087048 RCV000912512 rs150084985 CA10515112 |
147 | A>V | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10515110 rs767517354 |
148 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1431402672 CA414578643 |
148 | G>D | No |
ClinGen gnomAD |
|
|
CA414578637 rs1431402672 |
148 | G>V | No |
ClinGen gnomAD |
|
|
CA414578549 rs1603199657 |
151 | S>N | No |
ClinGen Ensembl |
|
|
CA335109728 rs374933870 |
154 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs764287186 CA10515109 |
158 | L>AV* | No |
ClinGen ExAC |
|
|
CA335109726 rs781235949 |
158 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA10515107 rs775647005 |
161 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1482436756 CA414578029 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA414577947 rs1242818244 |
164 | R>K | No |
ClinGen TOPMed |
|
|
rs765393939 CA10515106 |
166 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414577454 rs1603199580 |
173 | K>I | No |
ClinGen Ensembl |
|
|
rs1255796188 CA414577418 |
174 | S>L | No |
ClinGen gnomAD |
|
|
CA10515103 rs771368102 |
175 | K>N | No |
ClinGen ExAC |
|
|
CA10515102 rs747352505 VAR_087049 |
177 | R>K | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA414577130 rs1409613728 |
179 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10515082 rs140747142 |
179 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414576966 rs916548148 |
184 | N>K | No |
ClinGen TOPMed |
|
|
CA414576959 rs1569402390 |
185 | R>* | No |
ClinGen Ensembl |
|
|
rs375750801 CA10515081 |
185 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768248298 CA10515080 |
186 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs137884184 CA414576907 |
187 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10515079 rs137884184 VAR_087050 |
187 | T>N | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs779790704 CA10515078 |
190 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249046166 CA414576812 |
191 | T>I | No |
ClinGen gnomAD |
|
|
CA414576784 rs1208443523 |
192 | D>E | No |
ClinGen gnomAD |
|
|
rs1463958232 CA414576775 |
193 | P>L | No |
ClinGen gnomAD |
|
|
rs918513500 CA335109453 |
193 | P>S | No |
ClinGen TOPMed |
|
|
rs769508311 CA10515077 |
197 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10515076 rs745674590 |
197 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs781193558 CA10515075 |
198 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 200 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327197397 CA414576511 |
203 | D>Y | No |
ClinGen gnomAD |
|
|
rs1274161553 CA414576385 |
206 | G>D | No |
ClinGen gnomAD |
|
|
rs1227464889 CA414576272 |
211 | L>M | No |
ClinGen gnomAD |
|
|
rs1362763139 CA414576239 |
212 | W>C | No |
ClinGen gnomAD |
|
|
rs867135462 CA335109400 |
213 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 214 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414576126 rs1437119326 |
217 | A>G | No |
ClinGen gnomAD |
|
|
CA414576131 rs1305272470 |
217 | A>T | No |
ClinGen gnomAD |
|
|
CA10515058 rs201194181 |
221 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321043291 CA414576045 |
221 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515056 rs368392237 |
227 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 231 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917495803 CA335109395 |
233 | Q>H | No |
ClinGen Ensembl |
|
|
rs1478006719 CA414575710 |
234 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515055 rs745586763 |
237 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA414575403 rs1463140083 |
245 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414575381 rs1223387825 |
246 | A>T | No |
ClinGen TOPMed |
|
|
rs1019492586 CA335109381 |
246 | A>V | No |
ClinGen TOPMed |
|
|
CA10515052 rs746734174 |
249 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10515051 rs777798337 |
249 | K>R | No |
ClinGen ExAC |
|
|
CA10515049 rs753963195 |
260 | M>I | No |
ClinGen ExAC |
|
| TCGA novel | 264 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1319520 CA10515047 rs756180544 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1114988 rs984573393 CA335109357 |
267 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs750680042 CA10515046 |
269 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414572870 rs1226008675 |
278 | L>V | No |
ClinGen gnomAD |
|
|
CA335108883 rs866443903 |
279 | A>T | No |
ClinGen gnomAD |
|
|
CA10515027 rs757366137 |
287 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs751795508 CA10515026 |
288 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA10515025 rs764437087 |
288 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA10515024 rs758762026 |
289 | Q>P | No |
ClinGen ExAC |
|
|
CA10515023 rs753306555 |
290 | F>V | No |
ClinGen ExAC |
|
|
rs1569401538 CA414572479 |
291 | K>N | No |
ClinGen Ensembl |
|
|
CA10515022 rs765790735 |
293 | M>R | No |
ClinGen ExAC |
|
| TCGA novel | 295 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414572260 rs1320621402 |
299 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515020 rs776215676 |
308 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10515019 rs766141021 |
311 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA414571909 rs766141021 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515017 rs772913926 |
318 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs747949247 CA10515015 |
320 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs764880211 CA10515013 |
328 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs370238889 CA10515014 |
328 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1465584 CA335108832 rs991949946 |
329 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs745964330 CA10515012 COSM1114986 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10515011 rs376411862 |
331 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10515010 rs757358216 |
331 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA414571454 rs1227395602 |
331 | S>R | No |
ClinGen gnomAD |
|
|
rs758711613 CA10515007 |
336 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs145139506 CA10515005 |
339 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414571177 rs1350556140 |
342 | G>V | No |
ClinGen gnomAD |
|
|
CA335108781 rs759518226 |
343 | K>E | No |
ClinGen 1000Genomes |
|
|
CA414571130 rs1164114061 |
343 | K>R | No |
ClinGen gnomAD |
|
|
CA10515003 VAR_087053 rs141440727 |
345 | S>T | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs765871521 CA10515002 |
349 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10515001 rs760200430 |
351 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414570766 rs1369782712 |
353 | I>F | No |
ClinGen TOPMed |
|
|
CA335108735 rs891161511 |
355 | H>Y | No |
ClinGen TOPMed |
|
|
CA335108725 rs951720816 |
357 | G>A | No |
ClinGen gnomAD |
|
|
CA414570632 rs951720816 |
357 | G>D | No |
ClinGen gnomAD |
|
|
CA414570637 rs146601898 |
357 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146601898 CA10514999 |
357 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM70594 CA414570503 rs1220135107 |
360 | P>S | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1346446966 CA414570431 |
361 | S>C | No |
ClinGen gnomAD |
|
|
CA414570381 rs1319594322 |
362 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1229678782 CA414570258 |
365 | E>A | No |
ClinGen gnomAD |
|
|
CA335108719 rs867812609 |
366 | L>S | No |
ClinGen Ensembl |
|
|
rs1295787550 CA414570191 |
367 | G>E | No |
ClinGen gnomAD |
|
|
rs1364932790 CA414570214 |
367 | G>R | No |
ClinGen gnomAD |
|
|
rs576980542 CA10514996 VAR_087054 |
368 | P>L | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774063257 CA10514997 |
368 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10514993 rs770969173 |
369 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA10514994 rs373568641 |
369 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10514991 rs777888757 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111804676 CA335108671 |
373 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 374 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772271887 CA10514990 |
376 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414569817 rs1569401295 |
376 | T>S | No |
ClinGen Ensembl |
|
|
rs148953158 CA414569609 |
382 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10514988 rs148953158 COSM1242227 VAR_087055 |
382 | V>I | oesophagus no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA414569434 rs1569401281 |
386 | E>V | No |
ClinGen Ensembl |
|
|
CA414569382 rs1487210789 |
387 | G>D | No |
ClinGen gnomAD |
|
|
CA414569354 rs1253609669 |
388 | Q>R | No |
ClinGen gnomAD |
|
|
CA10514986 rs754436829 |
389 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10514985 rs199996554 |
391 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414569163 rs1272975995 |
393 | K>E | No |
ClinGen gnomAD |
|
|
rs775313137 CA414568573 |
398 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775313137 CA10514977 |
398 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10514975 rs369843091 |
402 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_087056 CA10514974 rs199975202 |
408 | V>M | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA10514973 rs772030144 |
409 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10514970 rs769191652 |
411 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs145786527 CA10514971 VAR_087057 |
411 | V>M | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA414567990 rs1569400651 |
412 | G>V | No |
ClinGen Ensembl |
|
|
CA10514968 rs201000718 |
413 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756574054 CA10514966 |
415 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468197673 CA414567851 |
416 | A>D | No |
ClinGen gnomAD |
|
|
rs375950319 CA10514965 |
422 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471972731 COSM1625495 CA414567534 |
426 | T>M | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1251115 rs994623588 CA335107915 |
430 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1202119917 CA414567352 |
433 | P>A | No |
ClinGen gnomAD |
|
|
rs1466668387 CA414567329 |
433 | P>L | No |
ClinGen gnomAD |
|
|
CA414567348 rs1202119917 |
433 | P>T | No |
ClinGen gnomAD |
|
|
rs752471430 CA10514958 |
434 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA414567268 rs1208252249 |
435 | S>G | No |
ClinGen gnomAD |
|
|
CA414567218 rs1266138344 |
436 | T>A | No |
ClinGen gnomAD |
|
|
CA414567204 rs1327155672 |
436 | T>S | No |
ClinGen gnomAD |
|
|
rs149799665 CA10514957 |
438 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1404064211 COSM239694 CA414567056 |
443 | V>I | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10514955 rs776426701 |
445 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767744266 CA10514954 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA414566991 rs1311794404 |
446 | S>R | No |
ClinGen gnomAD |
|
|
CA414566926 rs1367345293 |
447 | V>I | No |
ClinGen gnomAD |
|
|
CA414566777 rs1462238804 |
451 | S>C | No |
ClinGen TOPMed |
|
|
rs775862762 CA10514949 |
461 | A>S | No |
ClinGen ExAC |
|
|
rs747649963 CA10514948 |
462 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1603195900 CA414566288 |
464 | P>H | No |
ClinGen Ensembl |
|
|
rs1227604967 CA414566244 |
465 | L>P | No |
ClinGen gnomAD |
|
|
rs781531836 CA10514946 |
468 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1445718791 CA414566116 |
468 | S>R | No |
ClinGen gnomAD |
|
|
rs920712142 CA335107866 |
470 | Q>* | No |
ClinGen Ensembl |
|
|
CA414565904 rs1210478738 |
474 | V>G | No |
ClinGen gnomAD |
|
|
CA335107862 rs973399845 |
474 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 475 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746482368 CA10514944 |
476 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335107857 rs908800419 |
479 | A>S | No |
ClinGen TOPMed |
|
|
rs777407954 CA10514943 |
482 | I>T | No |
ClinGen ExAC |
|
|
rs1243589545 CA414565478 |
488 | Q>E | No |
ClinGen gnomAD |
|
|
CA335107823 rs1051236677 |
492 | G>R | No |
ClinGen TOPMed |
|
|
rs1344051914 CA414565353 |
493 | A>T | No |
ClinGen gnomAD |
|
|
rs752280897 CA10514941 |
494 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs188843575 CA10514940 |
495 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10514939 rs755209287 |
495 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414565250 rs755209287 |
495 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10514936 rs768250722 |
496 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10514937 rs768250722 |
496 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753862490 CA10514938 |
496 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs371747723 CA10514934 |
499 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371747723 CA10514933 |
499 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954660673 CA335107799 |
499 | P>S | No |
ClinGen Ensembl |
|
|
rs145281864 VAR_087058 CA10514931 |
500 | A>V | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10514929 rs777157957 |
502 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA335107781 rs925933425 |
503 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA414565035 rs925933425 |
503 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10514927 rs746537090 |
506 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10514926 rs755924417 |
507 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 508 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414564901 rs1266784442 |
508 | G>R | No |
ClinGen gnomAD |
|
|
rs368975642 CA10514925 |
509 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414564853 rs1483478530 |
510 | A>V | No |
ClinGen gnomAD |
|
|
CA10514924 rs747873017 |
511 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs370055472 CA10514923 VAR_087059 |
512 | P>L | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10514921 rs753536141 |
514 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA414564765 rs753536141 |
514 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780140297 CA10514920 |
515 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1411302299 CA414564655 |
519 | T>I | No |
ClinGen gnomAD |
|
|
rs1370756532 CA414564645 |
520 | V>F | No |
ClinGen gnomAD |
|
|
rs756054975 CA414564573 |
525 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10514919 rs756054975 |
525 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427947484 CA414564538 |
527 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414564540 rs1427947484 |
527 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1427320113 CA414564522 |
529 | G>D | No |
ClinGen gnomAD |
|
|
rs1477957639 CA414564526 |
529 | G>S | No |
ClinGen gnomAD |
|
|
CA414564502 rs1184391922 |
530 | T>S | No |
ClinGen gnomAD |
|
|
CA414564484 rs764333892 |
531 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10514917 rs764333892 |
531 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762921732 CA10514916 |
532 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278441667 CA414564476 |
532 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 535 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865860127 CA335107739 |
536 | V>F | No |
ClinGen Ensembl |
|
|
rs1218575343 CA414564387 |
538 | E>D | No |
ClinGen TOPMed |
|
|
rs1173969947 CA414564395 |
538 | E>K | No |
ClinGen gnomAD |
|
|
CA335107734 rs894160107 |
539 | G>E | No |
ClinGen Ensembl |
|
|
rs1243152103 CA414564364 |
540 | P>L | No |
ClinGen TOPMed |
|
|
CA335107716 rs1014205921 |
541 | L>P | No |
ClinGen TOPMed |
|
|
rs759949249 CA10514913 |
541 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414564308 rs1200975205 |
545 | S>F | No |
ClinGen gnomAD |
|
|
CA10514911 rs147400559 |
548 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1322665353 CA414564238 |
549 | G>D | No |
ClinGen gnomAD |
|
|
CA414564222 rs1481248452 |
550 | M>K | No |
ClinGen TOPMed |
|
|
rs958771596 CA335107707 |
550 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414564190 rs1229675353 |
552 | T>A | No |
ClinGen gnomAD |
|
|
rs1055282581 CA335107704 |
552 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA414564184 rs1055282581 |
552 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773675684 CA10514909 |
553 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA414564172 rs1361276805 |
554 | A>T | No |
ClinGen gnomAD |
|
|
rs1450764970 CA414564166 |
554 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 555 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10514908 rs201228337 |
555 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414564037 rs747561830 |
561 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10514907 rs747561830 |
561 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10514906 rs778657942 |
562 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473865375 CA414564005 |
563 | E>K | No |
ClinGen gnomAD |
|
|
CA414563956 rs1239010127 |
565 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 571 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414563799 rs1399298643 |
575 | H>Y | No |
ClinGen TOPMed |
|
|
rs1296486795 CA414563731 |
579 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 580 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347462011 CA414563717 |
580 | P>R | No |
ClinGen TOPMed |
|
|
rs768122088 CA10514905 |
581 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261166187 CA414563685 |
583 | V>L | No |
ClinGen gnomAD |
|
|
CA10514904 rs749104724 |
584 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1329242262 CA414563664 |
585 | S>P | No |
ClinGen gnomAD |
|
|
rs1282874679 CA414563629 |
587 | G>S | No |
ClinGen gnomAD |
|
|
rs755967068 CA10514902 |
591 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 591 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10514903 rs780049685 |
591 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs781230081 CA10514900 |
593 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10514899 rs758540606 |
595 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA414563435 rs1323130550 |
598 | T>I | No |
ClinGen gnomAD |
|
|
CA10514898 rs752657078 |
601 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 602 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141284451 CA10514897 VAR_087060 RCV000966499 |
604 | R>C | no effect on transcriptional activity shown in IFNB1 promoter-driven luciferase assay [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10514896 rs377233001 |
604 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754057089 CA10514895 |
607 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs148636858 CA10514893 COSM1556002 |
620 | G>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414562044 CA10514892 rs761003281 |
622 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414562023 rs1190452731 |
624 | L>V | No |
ClinGen gnomAD |
|
|
CA414561911 rs1260501773 |
630 | S>R | No |
ClinGen TOPMed |
|
|
CA10514890 rs772417954 |
637 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1004556077 CA335107635 |
641 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs890166986 CA414561650 |
643 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs890166986 CA335107633 |
643 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160131574 CA414561648 |
644 | P>A | No |
ClinGen TOPMed |
|
|
CA10514888 rs200679239 |
644 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 644 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10514886 rs372576424 |
645 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10514887 rs372576424 |
645 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA335107625 rs973496718 |
646 | P>S | No |
ClinGen gnomAD |
|
|
rs1361822264 CA414561598 |
647 | F>L | No |
ClinGen gnomAD |
|
|
rs1287230770 CA414561538 |
649 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 650 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779820546 CA10514885 |
653 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10514884 rs375724713 |
656 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA414561351 rs1163183136 |
659 | E>A | No |
ClinGen gnomAD |
|
|
rs781198298 CA10514882 |
660 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10514881 rs757084848 |
661 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs746954044 CA10514880 |
662 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778927302 CA10514879 |
663 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs755021463 CA10514878 |
664 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755021463 CA414561211 |
664 | I>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q99607
[MIM: 301074]: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (AIFBL2)
An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. {ECO:0000269|PubMed:34326534, ECO:0000269|PubMed:35266071}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. {ECO:0000269|PubMed:34326534, ECO:0000269|PubMed:35266071}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| natural killer cell proliferation | The expansion of a natural killer cell population by cell division. |
| NK T cell proliferation | The expansion of a NK T cell population by cell division. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DT0 | ELF5 | ETS-related transcription factor Elf-5 | Bos taurus (Bovine) | SS |
| Q0VC65 | ETV6 | Transcription factor ETV6 | Bos taurus (Bovine) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| Q8VDK3 | Elf5 | ETS-related transcription factor Elf-5 | Mus musculus (Mouse) | SS |
| Q60775 | Elf1 | ETS-related transcription factor Elf-1 | Mus musculus (Mouse) | PR |
| P97360 | Etv6 | Transcription factor ETV6 | Mus musculus (Mouse) | EV |
| Q9JHC9 | Elf2 | ETS-related transcription factor Elf-2 | Mus musculus (Mouse) | PR |
| Q9Z2U4 | Elf4 | ETS-related transcription factor Elf-4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAITLQPSDL | IFEFASNGMD | DDIHQLEDPS | VFPAVIVEQV | PYPDLLHLYS | GLELDDVHNG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IITDGTLCMT | QDQILEGSFL | LTDDNEATSH | TMSTAEVLLN | MESPSDILDE | KQIFSTSEML |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PDSDPAPAVT | LPNYLFPASE | PDALNRAGDT | SDQEGHSLEE | KASREESAKK | TGKSKKRIRK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TKGNRSTSPV | TDPSIPIRKK | SKDGKGSTIY | LWEFLLALLQ | DRNTCPKYIK | WTQREKGIFK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVDSKAVSKL | WGKQKNKPDM | NYETMGRALR | YYYQRGILAK | VEGQRLVYQF | KEMPKDLVVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDEDESSEAT | AAPPQASTAS | VASASTTRRT | SSRVSSRSAP | QGKGSSSWEK | PKIQHVGLQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SASLELGPSL | DEEIPTTSTM | LVSPAEGQVK | LTKAVSASSV | PSNIHLGVAP | VGSGSALTLQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TIPLTTVLTN | GPPASTTAPT | QLVLQSVPAA | STFKDTFTLQ | ASFPLNASFQ | DSQVAAPGAP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LILSGLPQLL | AGANRPTNPA | PPTVTGAGPA | GPSSQPPGTV | IAAFIRTSGT | TAAPRVKEGP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LRSSSYVQGM | VTGAPMEGLL | VPEETLRELL | RDQAHLQPLP | TQVVSRGSHN | PSLLGNQTLS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PPSRPTVGLT | PVAELELSSG | SGSLLMAEPS | VTTSGSLLTR | SPTPAPFSPF | NPTSLIKMEP |
| HDI |